Q12R (p.Gln12Arg) variant of PINK1 (Q9BXM7)
Q12R (p.Gln12Arg) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q12R (p.Gln12Arg) variant details
- p.Gln12Arg
- TOPMed rs1391821022
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- CADD 24.40
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00017)
- Structural context available